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Biallelic KIF24 variants are responsible for a spectrum of ..:
Reilly, Madeline Louise
;
Ain, Noor Ul
;
Muurinen, Mari
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/jbmr.4639. , 2022
Link:
https://hal.science/hal-03705297
RT Journal T1
Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-03705297v1&Exemplar=1&LAN=DE A1 Reilly, Madeline Louise A1 Ain, Noor Ul A1 Muurinen, Mari A1 Tata, Alice A1 Huber, Céline A1 Simon, Marleen A1 Ishaq, Tayyaba A1 Shaw, Nick A1 Rusanen, Salla A1 Pekkinen, Minna A1 Högler, Wolfgang A1 Knapen, Maarten, F C M A1 van den Born, Myrthe A1 Saunier, Sophie A1 Naz, Sadaf A1 Cormier-Daire, Valérie A1 Benmerah, Alexandre A1 Makitie, Outi PB HAL CCSD; American Society for Bone and Mineral Research YR 2022 K1 Acromesomelic dysplasia K1 Skeletal dysplasia K1 ciliopathies K1 kinesin K1 primary cilia K1 [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics K1 [SDV.BDD]Life Sciences [q-bio]/Development Biology JF info:eu-repo/semantics/altIdentifier/doi/10.1002/jbmr.4639 LK http://dx.doi.org/https://hal.science/hal-03705297 DO https://hal.science/hal-03705297 SF ELIB - SuUB Bremen
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